Variant report

Variant	rs62385809
Chromosome Location	chr6:13490045-13490046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16874170	0.95[AFR][1000 genomes]
rs57489291	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60148958	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62385801	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62385805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62385806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62385810	0.93[AMR][1000 genomes]
rs62385811	0.93[AMR][1000 genomes]
rs73372816	0.93[AMR][1000 genomes]
rs982391	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13488400-13494400	Weak transcription	HSMMtube	muscle
2	chr6:13488600-13490200	Weak transcription	NHDF-Ad	bronchial
3	chr6:13489000-13490800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:13489000-13494200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:13489200-13490600	Weak transcription	Placenta	Placenta
6	chr6:13489200-13496600	Weak transcription	Spleen	Spleen
7	chr6:13489200-13496600	Weak transcription	GM12878-XiMat	blood
8	chr6:13489400-13493800	Weak transcription	Adipose Nuclei	Adipose
9	chr6:13489400-13494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:13489400-13494200	Weak transcription	Fetal Heart	heart
11	chr6:13489400-13495600	Weak transcription	Left Ventricle	heart
12	chr6:13489600-13491600	Weak transcription	Esophagus	oesophagus
13	chr6:13489600-13493800	Weak transcription	Right Atrium	heart
14	chr6:13489600-13495600	Weak transcription	Right Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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